Incidental Mutation 'IGL02256:Nhlrc2'
ID 286577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nhlrc2
Ensembl Gene ENSMUSG00000025078
Gene Name NHL repeat containing 2
Synonyms 1200003G01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02256
Quality Score
Status
Chromosome 19
Chromosomal Location 56536693-56591935 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56585793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 676 (E676G)
Ref Sequence ENSEMBL: ENSMUSP00000071370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071423]
AlphaFold Q8BZW8
Predicted Effect probably benign
Transcript: ENSMUST00000071423
AA Change: E676G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: E676G

DomainStartEndE-ValueType
Pfam:Thioredoxin_8 78 174 2.7e-14 PFAM
LY 216 258 8.44e0 SMART
Pfam:NHL 278 304 2.3e-9 PFAM
low complexity region 321 331 N/A INTRINSIC
Blast:LY 402 446 5e-8 BLAST
LY 467 509 1.91e0 SMART
Pfam:NHL 530 558 1.2e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 T A 2: 91,599,399 (GRCm39) V173E possibly damaging Het
Dennd4c A G 4: 86,717,778 (GRCm39) T592A probably damaging Het
Dhcr24 G A 4: 106,429,517 (GRCm39) G197S probably damaging Het
Fat1 A G 8: 45,403,369 (GRCm39) Y40C probably damaging Het
Fbxl17 A C 17: 63,806,085 (GRCm39) C310G probably benign Het
H2bc8 G T 13: 23,755,609 (GRCm39) M1I probably null Het
Hdac10 T C 15: 89,010,097 (GRCm39) probably benign Het
Mcm6 A G 1: 128,263,465 (GRCm39) probably null Het
Mrpl19 G A 6: 81,941,300 (GRCm39) T87I probably benign Het
Mzf1 A G 7: 12,786,664 (GRCm39) probably benign Het
Notch3 T C 17: 32,351,298 (GRCm39) D1899G probably damaging Het
Nxph1 A G 6: 9,247,185 (GRCm39) D52G probably benign Het
Or10g9b A G 9: 39,917,349 (GRCm39) F299L probably benign Het
Or10j2 A T 1: 173,098,194 (GRCm39) I151F probably benign Het
Or2aj6 T C 16: 19,443,756 (GRCm39) I31M probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or8b3b A T 9: 38,584,776 (GRCm39) M1K probably null Het
Or8b49 G A 9: 38,505,840 (GRCm39) V108I probably benign Het
Pax6 T C 2: 105,515,115 (GRCm39) V54A probably benign Het
Pbx1 A T 1: 168,011,171 (GRCm39) H376Q possibly damaging Het
Prpf4b T A 13: 35,083,861 (GRCm39) C877S probably damaging Het
Robo3 A G 9: 37,336,649 (GRCm39) L373P probably damaging Het
Samd9l G A 6: 3,376,197 (GRCm39) R355W probably damaging Het
Smarce1 A T 11: 99,110,206 (GRCm39) N127K possibly damaging Het
Sptbn1 T C 11: 30,070,990 (GRCm39) I1511V probably benign Het
Stab1 C T 14: 30,863,549 (GRCm39) R2071H probably damaging Het
Svep1 A T 4: 58,070,311 (GRCm39) C2492S possibly damaging Het
Tbr1 C A 2: 61,635,218 (GRCm39) T56N probably damaging Het
Thoc2l T A 5: 104,668,149 (GRCm39) Y890* probably null Het
Tlr6 T C 5: 65,112,287 (GRCm39) T207A probably benign Het
Tmem241 A G 18: 12,246,489 (GRCm39) W54R probably damaging Het
Tmem87a A G 2: 120,208,377 (GRCm39) V326A probably damaging Het
Trappc14 C A 5: 138,258,577 (GRCm39) D557Y probably damaging Het
Uroc1 A G 6: 90,323,669 (GRCm39) D372G possibly damaging Het
Zc3h7a A C 16: 10,965,140 (GRCm39) S664R probably benign Het
Other mutations in Nhlrc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Nhlrc2 APN 19 56,540,231 (GRCm39) nonsense probably null
IGL01524:Nhlrc2 APN 19 56,564,587 (GRCm39) missense probably benign 0.39
IGL01570:Nhlrc2 APN 19 56,563,219 (GRCm39) missense possibly damaging 0.87
IGL01653:Nhlrc2 APN 19 56,559,282 (GRCm39) missense probably benign 0.25
IGL02303:Nhlrc2 APN 19 56,563,280 (GRCm39) missense probably damaging 1.00
IGL02349:Nhlrc2 APN 19 56,580,151 (GRCm39) missense possibly damaging 0.94
IGL02501:Nhlrc2 APN 19 56,559,086 (GRCm39) nonsense probably null
R0270:Nhlrc2 UTSW 19 56,540,302 (GRCm39) missense probably damaging 1.00
R0454:Nhlrc2 UTSW 19 56,558,959 (GRCm39) missense probably damaging 1.00
R2022:Nhlrc2 UTSW 19 56,585,710 (GRCm39) missense probably benign 0.06
R3854:Nhlrc2 UTSW 19 56,576,703 (GRCm39) critical splice donor site probably null
R3855:Nhlrc2 UTSW 19 56,576,703 (GRCm39) critical splice donor site probably null
R3856:Nhlrc2 UTSW 19 56,576,703 (GRCm39) critical splice donor site probably null
R4659:Nhlrc2 UTSW 19 56,564,699 (GRCm39) missense possibly damaging 0.86
R4767:Nhlrc2 UTSW 19 56,558,898 (GRCm39) missense probably benign 0.03
R4992:Nhlrc2 UTSW 19 56,558,966 (GRCm39) missense probably benign 0.00
R5877:Nhlrc2 UTSW 19 56,559,016 (GRCm39) missense probably damaging 1.00
R6191:Nhlrc2 UTSW 19 56,559,291 (GRCm39) missense probably benign 0.00
R6755:Nhlrc2 UTSW 19 56,580,216 (GRCm39) missense probably benign 0.12
R7164:Nhlrc2 UTSW 19 56,580,931 (GRCm39) missense probably damaging 1.00
R7507:Nhlrc2 UTSW 19 56,585,810 (GRCm39) missense not run
R7609:Nhlrc2 UTSW 19 56,583,328 (GRCm39) missense probably benign
R8811:Nhlrc2 UTSW 19 56,583,344 (GRCm39) missense probably benign 0.03
R8849:Nhlrc2 UTSW 19 56,580,184 (GRCm39) missense possibly damaging 0.72
Posted On 2015-04-16